Table 2.
Demographic and clinical features of sIBM patients carrying variants in SQSTM1 and VCP genes
| Features | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 |
|---|---|---|---|---|---|---|---|
| Sex | F | M | M | F | M | F | M |
| Ethnicity | Caucasian | Caucasian | Indian subcontinent | Caucasian | Caucasian | Caucasian | Caucasian |
| Age at onset | 45 | 50 | 71 | 57 | 85 | 74 | 48 |
| Family history | − | − | − | − | − | − | − |
| Finger flexor weakness | + | + | + | + | + | + | + |
| Weakness of KE > HF | − | − | + | + | UNK | − | − |
| Weakness of FF > SA | + | + | + | + | UNK | + | + |
| Weakness of WF > WE | + | + | + | − | UNK | − | − |
| PDB | − | − | − | − | − | − | − |
| ALS | − | − | − | − | − | − | − |
| FTD | − | − | − | − | − | − | − |
| Parkinson's disease | − | − | − | − | − | − | − |
| Elevated CK (×ULN) | + (≤15) | + (≤15) | + (≤15) | − | − | N/A | + (≤15) |
| Neurophysiological investigation | Myopathic | Myopathic | Myopathic | N/A | UNK | N/A | N/A |
| MRC 2010 sIBM diagnostic category | PAD | PAD | PAD | CLD | PO | PO | PO |
Key: ALS, amyotrophic lateral sclerosis; CK, creatine kinase; CLD, clinically defined; F, female; FF, finger flexion; FTD, frontotemporal dementia; HF, hip flexion; KE, knee extension; M, male; N/A, not available; PAD, pathologically defined; PDB, Paget disease of bone; PO, possible; SA, shoulder abduction; sIBM, sporadic inclusion body myositis; SQSTM1, sequestosome 1; ULN, upper limit of normal; UNK, unknown; VCP, valosin-containing protein; WE, wrist extension; WF, wrist flexion.